Variant report

Variant	rs2297918
Chromosome Location	chr10:94820202-94820203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr10:94819844-94820227	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr10:94819838-94821062	H1-hESC	embryonic stem cell:	n/a	chr10:94820319-94820329 chr10:94820375-94820385
3	CTCF	chr10:94820136-94820268	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr10:94820060-94820210	SAEC	small airway:	n/a	n/a
5	CTCF	chr10:94820180-94820330	GM12871	blood:	n/a	n/a
6	CTCF	chr10:94820140-94820290	NHEK	skin:	n/a	n/a
7	SUZ12	chr10:94819717-94824643	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr10:94819925-94820348	H1-hESC	embryonic stem cell:	n/a	chr10:94820200-94820214
9	CTCF	chr10:94820100-94820250	BJ	skin:	n/a	n/a
10	RAD21	chr10:94820031-94820367	H1-hESC	embryonic stem cell:	n/a	chr10:94820200-94820214
11	CTCF	chr10:94820080-94820230	HRPEpiC	eye:	n/a	n/a
12	POLR2A	chr10:94820193-94820380	K562	blood:	n/a	n/a
13	CTCF	chr10:94820100-94820250	AG09309	skin:	n/a	n/a
14	CTCF	chr10:94820167-94820266	Fibrobl	skin:	n/a	n/a
15	CTCF	chr10:94820120-94820270	HMEC	breast:	n/a	n/a
16	BACH1	chr10:94820074-94820523	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr10:94820080-94820230	HCPEpiC	choroid plexus:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYOF-1	chr10:94819985-94820377	NONHSAT015676

Variant related genes	Relation type
CYP26C1	TF binding region
ENSG00000226425	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11187256	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187262	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12263369	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1339821	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2478236	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2478237	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2486681	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2486684	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55843714	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7922067	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8211	0.92[EUR][1000 genomes]
rs835273	0.87[EUR][1000 genomes]
rs835276	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835278	0.90[EUR][1000 genomes]
rs856534	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802015	chr10:94811983-94839960	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv895899	chr10:94818382-94836435	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94804200-94821000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr10:94806200-94821000	Weak transcription	Gastric	stomach
3	chr10:94808000-94821000	Weak transcription	Pancreas	Pancrea
4	chr10:94811800-94825000	Weak transcription	HepG2	liver
5	chr10:94816600-94821200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr10:94817600-94821200	Strong transcription	Dnd41	blood
7	chr10:94818000-94822800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:94818400-94821200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr10:94818400-94821200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr10:94818800-94821000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr10:94818800-94821000	Weak transcription	A549	lung
12	chr10:94819400-94820400	Bivalent Enhancer	Fetal Stomach	stomach
13	chr10:94819400-94820600	ZNF genes & repeats	Spleen	Spleen
14	chr10:94819400-94821600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr10:94819600-94820400	Bivalent Enhancer	Fetal Heart	heart
16	chr10:94819600-94821200	ZNF genes & repeats	Lung	lung
17	chr10:94819600-94821400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr10:94819600-94821400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:94819600-94821800	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr10:94819600-94822200	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr10:94819600-94823600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr10:94819800-94820400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:94819800-94820400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:94819800-94820600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr10:94819800-94821200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr10:94819800-94821400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
27	chr10:94819800-94821400	Bivalent Enhancer	Adipose Nuclei	Adipose
28	chr10:94819800-94821400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr10:94819800-94821600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
30	chr10:94819800-94821800	Bivalent Enhancer	Liver	Liver
31	chr10:94819800-94821800	Bivalent Enhancer	Esophagus	oesophagus
32	chr10:94819800-94822000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr10:94819800-94822000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr10:94819800-94822200	Bivalent Enhancer	Fetal Intestine Small	intestine
35	chr10:94819800-94823600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr10:94819800-94827800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr10:94820000-94820400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr10:94820000-94820400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
39	chr10:94820000-94820400	Bivalent/Poised TSS	Fetal Brain Female	brain
40	chr10:94820000-94820400	Bivalent/Poised TSS	Right Ventricle	heart
41	chr10:94820000-94820600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:94820000-94820600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr10:94820000-94820600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
44	chr10:94820000-94820800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr10:94820000-94820800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:94820000-94820800	Bivalent Enhancer	Fetal Thymus	thymus
47	chr10:94820000-94821000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr10:94820000-94821200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr10:94820000-94821400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr10:94820000-94821600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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